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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TRPV4 and spondylometaphyseal dysplasia Kozlowski type in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with TRPV4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondylometaphyseal dysplasia Kozlowski type  (DOID:0111554)
  • 0 papers in RGD have been used to annotate TRPV4


  • An association has been curated linking TRPV4 and spondylometaphyseal dysplasia Kozlowski type in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TRPV4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondylometaphyseal dysplasia Kozlowski type  (DOID:0111554)
  • 0 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: SMD Kozlowski type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type
  • Original References(s): PMID:10463355 PMID:14755468 PMID:17879966 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:32381727 PMID:34008892 PMID:34529350 PMID:4056805 PMID:6628444 PMID:8179305


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